PMID- 7915601
OWN - NLM
STAT- MEDLINE
DCOM- 19941004
LR  - 20220410
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 7
IP  - 1
DP  - 1994 May
TI  - Mutations of the VHL tumour suppressor gene in renal carcinoma.
PG  - 85-90
AB  - Multiple, bilateral renal carcinomas are a frequent occurrence in von 
      Hippel-Lindau (VHL) disease. To elucidate the aetiological role of the VHL gene 
      in human kidney tumorigenesis, localized and advanced tumours from 110 patients 
      with sporadic renal carcinoma were analysed for VHL mutations and loss of 
      heterozygosity (LOH). VHL mutations were identified in 57% of clear cell renal 
      carcinomas analysed and LOH was observed in 98% of those samples. Moreover, VHL 
      was mutated and lost in a renal tumour from a patient with familial renal 
      carcinoma carrying the constitutional translocation, t(3;8)(p14;q24). The 
      identification of VHL mutations in a majority of localized and advanced sporadic 
      renal carcinomas and in a second form of hereditary renal carcinoma indicates 
      that the VHL gene plays a critical part in the origin of this malignancy.
FAU - Gnarra, J R
AU  - Gnarra JR
AD  - Urologic Oncology Section, National Cancer Institute, Bethesda, Maryland 20892.
FAU - Tory, K
AU  - Tory K
FAU - Weng, Y
AU  - Weng Y
FAU - Schmidt, L
AU  - Schmidt L
FAU - Wei, M H
AU  - Wei MH
FAU - Li, H
AU  - Li H
FAU - Latif, F
AU  - Latif F
FAU - Liu, S
AU  - Liu S
FAU - Chen, F
AU  - Chen F
FAU - Duh, F M
AU  - Duh FM
AU  - et al.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (DNA, Neoplasm)
SB  - IM
GS  - VHL
MH  - Adenocarcinoma, Clear Cell/genetics
MH  - Base Sequence
MH  - Carcinoma/*genetics
MH  - DNA Mutational Analysis
MH  - DNA, Neoplasm/genetics
MH  - *Genes, Tumor Suppressor
MH  - Humans
MH  - Kidney Neoplasms/*genetics
MH  - Molecular Sequence Data
MH  - *Mutation
MH  - Neoplasms, Second Primary/genetics
MH  - Organ Specificity
MH  - Polymorphism, Restriction Fragment Length
MH  - *Sequence Deletion
MH  - von Hippel-Lindau Disease/*genetics
EDAT- 1994/05/01 00:00
MHDA- 1994/05/01 00:01
CRDT- 1994/05/01 00:00
PHST- 1994/05/01 00:00 [pubmed]
PHST- 1994/05/01 00:01 [medline]
PHST- 1994/05/01 00:00 [entrez]
AID - 10.1038/ng0594-85 [doi]
PST - ppublish
SO  - Nat Genet. 1994 May;7(1):85-90. doi: 10.1038/ng0594-85.